GTF2IRD1

The GTF2IRD1 gene provides instructions for making a protein that regulates the activity of many other genes. This protein probably interacts with specific regions of DNA and with other proteins to turn genes on or off. Based on this role, the GTF2IRD1 protein is called a transcription factor.

Although its exact function is unknown, the GTF2IRD1 gene is active in many of the body's tissues. It appears to be particularly important for gene regulation in the brain and in muscles used for movement (skeletal muscles). Studies suggest that this gene also plays a role in the development of tissues in the bones and face (craniofacial development).

Williams syndrome - associated with the GTF2IRD1 gene

The GTF2IRD1 gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome. As a result of this deletion, people with this condition are missing one copy of the GTF2IRD1 gene in each cell. Studies suggest that the loss of this gene may contribute to some of the characteristic features of Williams syndrome, including the distinctive facial features, dental abnormalities, and problems with visual-spatial tasks such as writing and drawing. Researchers are investigating how a deletion of this gene may be related to these specific features.